Canonical Allele Identifier: CA375631442

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391675C>G (hg19) ; chr9:g.136497223C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497223C>G , CM000671.2:g.136497223C>G	GRCh38
NC_000009.11:g.139391675C>G , CM000671.1:g.139391675C>G	GRCh37
NC_000009.10:g.138511496C>G	NCBI36
NG_007458.1:g.53564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6516G>C MANE Select	ENSP00000498587.1:p.Glu2172Asp
ENST00000679595.1:c.*1556G>C	ENSP00000506241.1:n.*1556G>C
ENST00000679969.1:n.3112G>C
ENST00000680003.1:n.2848G>C
ENST00000680133.1:c.6402G>C	ENSP00000505319.1:p.Glu2134Asp
ENST00000680218.1:c.6396G>C	ENSP00000505339.1:p.Glu2132Asp
ENST00000680668.1:c.6402G>C	ENSP00000506336.1:p.Glu2134Asp
ENST00000680778.1:c.4113G>C	ENSP00000506033.1:p.Glu1371Asp
ENST00000680924.1:c.*3916G>C	ENSP00000506031.1:n.*3916G>C
ENST00000681135.1:c.*4125G>C	ENSP00000506636.1:n.*4125G>C
ENST00000681298.1:n.4621G>C
ENST00000681454.1:c.*5752G>C	ENSP00000505763.1:n.*5752G>C
ENST00000277541.6:c.6516G>C	ENSP00000277541.6:p.Glu2172Asp
NM_017617.3:c.6516G>C	NP_060087.3:p.Glu2172Asp
XM_011518717.1:c.5817G>C	XP_011517019.1:p.Glu1939Asp
NM_017617.5:c.6516G>C MANE Select	NP_060087.3:p.Glu2172Asp
XM_011518717.2:c.5793G>C	XP_011517019.2:p.Glu1931Asp